An isolated case of nephronophthisis: medullary cystic disease without typical onset.

A 16-year-old girl with renal failure was transferred to our hospital for an extensive renal examination. Computerized tomography and ultrasonography showed multiple small cysts throughout the medulla of both kidneys. Histological findings revealed tubular atrophy and dilatation and marked periglomerular fibrosis, all of which were compatible with nephronophthisis. Her development and growth were normal. A prior urinalysis, as well as her symptoms and family history were not helpful for making a diagnosis. As early diagnosis of nephronophthisis is difficult in some cases, more detailed screening is needed for children and adolescents.

[1]  T. Mosher,et al.  Renal medullary cystic disease: assessment by MRI , 1998, Abdominal Imaging.

[2]  H. Al-Suhaibani,et al.  Thin-section computed tomography scans detect medullary cysts in patients believed to have juvenile nephronophthisis. , 1996, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[3]  日本透析療法学会統計調査委員会,et al.  An overview of regular dialysis treatment in Japan (as of Dec. 31, 1992) , 1994 .

[4]  D. Stablein,et al.  Maintenance dialysis in North American children and adolescents: a preliminary report. North American Pediatric Renal Transplant Cooperative Study (NAPRTCS). , 1993, Kidney international. Supplement.

[5]  T. Fujinami,et al.  Familial juvenile nephronophthisis and renal transplantation in two siblings. , 1992, Nihon Jinzo Gakkai shi.

[6]  Toshiyuki Yamamoto,et al.  Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage — , 1991, Acta paediatrica Japonica : Overseas edition.

[7]  H. Tsukahara,et al.  Juvenile Nephronophthisis Diagnosed from Glucosuria Detected by Urine Screening at School , 1990, Acta paediatrica Japonica : Overseas edition.

[8]  L. Garel,et al.  Juvenile nephronophthisis: sonographic appearance in children with severe uremia. , 1984, Radiology.

[9]  D. S. Ellis,et al.  Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome). , 1984, American journal of ophthalmology.

[10]  B. Polak,et al.  Carrier detection in tapetoretinal degeneration in association with medullary cystic disease. , 1983, American journal of ophthalmology.

[11]  P. Gikas,et al.  Angiographic findings in renal medullary cystic disease. , 1974, Radiology.

[12]  H. Shigematsu,et al.  [A case of nephronophthisis-cystic renal medulla complex]. , 1990, Nihon Jinzo Gakkai shi.

[13]  J. Morales,et al.  Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. , 1990, Nephron.

[14]  R. Bailey,et al.  Nephronophthisis-cystic renal medulla complex: diagnosis by computerized tomography. , 1989, Nephron.

[15]  Gardner Kd.  Juvenile nephronophthisis and renal medullary cystic disease. , 1976 .

[16]  P. R. Betts,et al.  Juvenile nephronophthisis. , 1973, The Lancet.